Intracerebral hemorrhage in CADASIL

Autor: Palazzo, P. ^*, Le Guyader, G., Neau, J.-P.

Publikováno v: In Revue Neurologique April 2021 177(4):422-430

3q29 duplications: A cohort of 46 patients and a literature review.

Autor: Massier M; Department of Genetics, Reims University Hospital, Reims, France., Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France., Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France., Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Le Millier K; Department of Genetics, Brest University Hospital, Brest, France., Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France., Jacquin C; Department of Genetics, Reims University Hospital, Reims, France., Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France., Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France., Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France., Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France., Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France., Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France., Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France., Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France., Landais E; Department of Genetics, Reims University Hospital, Reims, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63531. Date of Electronic Publication: 2024 Feb 29.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Autor: Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France. Electronic address: gaelnicolas@hotmail.com., Zaréa A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Lacour M; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Quenez O; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Rousseau S; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Bonnevalle A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Schramm C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Sandron F; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Andriuta D; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Anthony P; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Auriacombe S; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France., Balageas AC; Centre Mémoire Ressources et Recherche, CHRU de Tours, Tours, France., Ballan G; Centre Hospitalier de la Côte Basque, Bayonne, France., Barbay M; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Béjot Y; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France., Belliard S; Unité de recherche 1077 INSERM-EPHE-UNICAEN Neuropsychologie & Imagerie de la Mémoire Humaine (NIMH), Caen, France; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Benaiteau M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bennys K; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Bombois S; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Boutoleau-Bretonnière C; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Branger P; Department of Neurology, Caen University Hospital, Caen, France., Carlier J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Cartz-Piver L; Memory Ressources Research Center, Department of Neurology, University Hospital of Limoges, France Inserm U1094, IRD U270, EPIMACT, Université of Limoges, Limoges, France., Cassagnaud P; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Ceccaldi MP; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Chauviré V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Chen Y; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Cogez J; Department of Neurology, Caen University Hospital, Caen, France., Cognat E; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Contegal-Callier F; Hospices Civils de Beaune, Consultation mémoire, Beaune, France., Corneille L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Couratier P; CMRR Limoges, Service de Neurologie CHU Limoges, Limoges, France., Cretin B; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Crinquette C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dauriat B; Service de Génétique Médicale, Hopital Mère-Enfant, CHU Limoges, Limoges, France., Dautricourt S; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., de la Sayette V; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., de Liège A; Service de Neurologie, APHP, Hôpital Avicenne, Université Sorbonne Paris Nord, Bobigny, France., Deffond D; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Demurger F; Service de génétique, CHBA, Vannes, France., Deramecourt V; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Derollez C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dionet E; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Doco Fenzy M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; CHU Nantes, Service de Génétique, Nantes, France; CHU Reims, Service de Génétique, Reims, France., Dumurgier J; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Dutray A; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Etcharry-Bouyx F; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Formaglio M; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Gabelle A; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Gainche-Salmon A; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Godefroy O; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Graber M; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gregoire C; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Grimaldi S; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Gueniat J; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gueriot C; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Guillet-Pichon V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Haffen S; Centre mémoire Recherche Ressources, Service de Neurologie, CHU Besançon, Besançon, France., Hanta CR; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Hardy C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Hautecloque G; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Heitz C; Institut du cerveau Trocadero, Paris, France; Neurology Department, Hôpital Universitaire de Nîmes, Nîmes, France., Hourregue C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France., Jonveaux T; Centre Mémoire de Ressources et de Recherche de Lorraine Service de Neurologie CHRU Nancy, Nancy, France; Laboratoire 2LPN EA 7489 Université de Lorraine, Nancy, France., Jurici S; Consultation Mémoire, Service de Gériatrie, Centre Hospitalier Perpignan, Perpignan, France., Koric L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France; Aix-Marseille Univ, UMR 7249, CNRS, Centrale Marseille, Institut Fresnel, Marseille, France., Krolak-Salmon P; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Lagarde J; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Lanoiselée HM; Service de neurologie, Centre Hospitalier Régional d'Orléans, Orléans, France., Laurens B; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Le Ber I; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Le Guyader G; Service de Génétique, CHU Poitiers, 86022 Poitiers Cedex, France., Leblanc A; Consultations neurologiques, HIA Clermont-Tonnerre, Brest, France; Service de neurologie, CHU Cavale-Blanche, Brest, France., Lebouvier T; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Levy R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Lippi A; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Mackowiak MA; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Magnin E; Laboratoire de neuroscience, Université de Franche-Comté UFC et Service de Neurologie, CMRR, CHU Besançon, Besançon, France., Marelli C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Martinaud O; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., Maureille A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Migliaccio R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Milongo-Rigal E; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Mohr S; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Mollion H; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Morin A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France; Département de Psychiatrie, Centre Hospitalier du Rouvray, Université de Rouen, 76000, Sotteville-lès-Rouen, France., Nivelle J; CH Ales Cévennes, Alès, France., Noiray C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Olivieri P; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Paquet C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Pariente J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Pasquier F; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Perron A; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Philippi N; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Planche V; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Pouclet-Courtemanche H; Department of Neurology, CHU Nantes, Nantes, France., Rafiq M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Rollin-Sillaire A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Roué-Jagot C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Saracino D; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Sarazin M; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Sauvée M; Centre Mémoire de Ressources et de Recherche, Pôle PReNeLe, CHU Grenoble Alpes CS 10226, 38043 Grenoble Cedex 9, France; Unité de recherche mixte Université Grenoble Alpes/Université Savoie Montblanc, CNRS UMR 5115, Laboratoire de Psychologie et Neurocognition (LPNC), 38000 Grenoble, France., Sellal F; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France; University of Strasbourg, Medicine Faculty, INSERM, U-1118, Strasbourg, France., Teichmann M; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Thauvin C; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Thomas Q; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Tisserand C; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Turpinat C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Van Damme L; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Vercruysse O; Department of Neurology, Saint Brieuc Hospital, Saint-Brieuc, France., Villain N; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Wagemann N; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Charbonnier C; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, F-76000 Rouen, France., Wallon D; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101082. Date of Electronic Publication: 2024 Jan 24.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Autor: Riquin K; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France kevin.riquin@univ-nantes.fr., Isidor B; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Mercier S; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Nizon M; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Colin E; CHU Angers, Service de Génétique médicale, Angers, France.; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France., Bonneau D; CHU Angers, Service de Génétique médicale, Angers, France.; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France., Pasquier L; Service de Génétique Clinique, ERN ITHACA, Rennes, France., Odent S; Service de Génétique Clinique, ERN ITHACA, Rennes, France.; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Le Guillou Horn XM; Service de génétique médicale, CHU de Poitiers, Poitiers, France.; LabCom I3M-Dactim mis/LMA CNRS 7348, Université de Poitiers, Poitiers, France., Le Guyader G; Service de génétique médicale, CHU de Poitiers, Poitiers, France., Toutain A; UF de Génétique Médicale, Centre Hospitalier Universitaire, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France., Pichon O; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Doco-Fenzy M; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Bézieau S; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France., Cogné B; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Dec 21; Vol. 61 (1), pp. 47-56. Date of Electronic Publication: 2023 Dec 21.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Autor: Caron V; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Chassaing N; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom., Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany., Ngu AM; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Meloche E; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Chorfi S; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Lakhani SA; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT., Ji W; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT., Steiner L; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY., Marcadier J; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada., Jansen PR; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands., van de Pol LA; Department of Pediatric Neurology, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Russi AS; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA., Le Guyader G; Service de Génétique médicale, CHU de Poitiers, Poitiers, France., Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Plaisancié J; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Stoltenburg C; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany., Drenckhahn A; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Hamdan FF; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Lefebvre M; UF de fœtopathologie, Hôpital Robert Debré, Paris, France., Attie-Bitach T; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants malade, Paris, France., Forey P; Centre Hospitalier d'Angoulême, Angoulême, France., Smirnov V; Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHU de Lille, Lille, France., Ernould F; Service d'ophtalmologie, Hôpital Claude Huriez, CHU de Lille, Lille, France., Jacquemont ML; Medical Genetics, CHU La Reunion, Reunion Island, France., Grotto S; Unité de Génétique Clinique, Hôpital Robert Debré, Paris, France., Alcantud A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain., Coret A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain., Ferrer-Avargues R; Medical Genetics Unit, Sistemas Genómicos, Paterna, Spain., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA., Vincent-Delorme C; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France., Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA., Safina N; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA., Saade D; Division of Child Neurology, Stead Family Department of Pediatrics, Department of Neurology, UI Carver College of Medicine, Iowa City, IA., Lupski JR; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Calame DG; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Geneviève D; Université Montpellier, INSERM U1183, Génétique clinique, CHU de Montpellier, Montpellier, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Myers KA; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada., Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN., Calvas P; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Salmon C; Children's & Adolescent Services, Royal Surrey County Hospital, Guildford, Surrey, United Kingdom., Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom., Elmslie F; St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Allaire M; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Prigozhin DM; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Tremblay A; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Obstetrics & Gynecology, Université de Montréal, Montréal, QC, Canada; Department of Biochemistry and Molecular Medecine, Université de Montréal, Montréal, QC, Canada. Electronic address: andre.tremblay.1@umontreal.ca., Michaud JL; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada. Electronic address: jacques.michaud.med@ssss.gouv.qc.ca.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100856. Date of Electronic Publication: 2023 Apr 20.